Homozygosity for Asn86Ser mutation in the CuZn superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis

被引:54
作者
Hayward, C [1 ]
Brock, DJH
Minns, RA
Swingler, RJ
机构
[1] Univ Edinburgh, Western Gen Hosp, Mol Med Ctr, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland
[2] Royal Hosp Sick Children, Dept Paediat Neurol, Edinburgh EH9 1LF, Midlothian, Scotland
[3] Dundee Royal Infirm, Dept Neurol, Dundee DD1 9ND, Scotland
关键词
D O I
10.1136/jmg.35.2.174
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:174 / 174
页数:1
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